Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312831A>G , CM000673.2:g.118312831A>G | GRCh38 |
| NC_000011.9:g.118183546A>G , CM000673.1:g.118183546A>G | GRCh37 |
| NC_000011.8:g.117688756A>G | NCBI36 |
| NG_007383.1:g.13252A>G , LRG_38:g.13252A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.317A>G MANE Select | ENSP00000354566.4:p.Glu106Gly | |
| ENST00000361763.8:c.317A>G | ENSP00000354566.4:p.Glu106Gly | |
| ENST00000526146.5:n.863A>G | ||
| ENST00000528435.5:n.870A>G | ||
| ENST00000528600.1:c.299A>G | ENSP00000433975.1:p.Glu100Gly | |
| ENST00000529713.5:n.423A>G | ||
| ENST00000531913.1:n.688A>G | ||
| NM_000733.3:c.317A>G , LRG_38t1:c.317A>G | NP_000724.1:p.Glu106Gly | |
| NM_000733.4:c.317A>G MANE Select | NP_000724.1:p.Glu106Gly |